AiPD: Autoinhibited Protein Database

Q9UIA0

Gene name	CYTH4 (CYT4, PSCD4)
Protein name	Cytohesin-4
Names	PH, SEC7 and coiled-coil domain-containing protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27128
EC number
Protein Class

Descriptions

Cytohesin-4 (CYTH4) promotes guanine-nucleotide exchange on ARF1 and ARF5. Cytohesins share a modular architecture consisting of heptad repeats, a Sec7 domain with exchange activity for Arf1 and Arf6, a PH domain that binds phosphatidyl inositol (PI) polyphosphates, and a C-terminal helix (CtH) that overlaps with a polybasic region (PBR). In human CYTH3, it is autoinhibited by the Sec7-PH linker and CtH/PBR, which obstruct substrate binding. The autoinhibition can be relieved by Arf6-GTP binding in the presence of the PIP3 head group.

Autoinhibitory domains (AIDs)

247-259 (Sec7-PH linker) SS

Target domain	54-243 (Sec7 domain)
Relief mechanism	Partner binding
Assay

AID

247-259 (Sec7-PH linker)

Target domain

54-243 (Sec7 domain)

Relief mechanism

Partner binding (Arf6-GTP binding to allosteric site including AiEs and PH domain)

Assay

374-393 (C-terminal helix/polybasic region) SS

Target domain	54-243 (Sec7 domain)
Relief mechanism	Partner binding
Assay

AID

374-393 (C-terminal helix/polybasic region)

Target domain

54-243 (Sec7 domain)

Relief mechanism

Partner binding (Arf6-GTP binding to allosteric site including AiEs and PH domain)

Assay

Accessory elements

No accessory elements

References

Malaby AW et al. (2013) "Structural basis for membrane recruitment and allosteric activation of cytohesin family Arf GTPase exchange factors", Proceedings of the National Academy of Sciences of the United States of America, 110, 14213-8

DiNitto JP et al. (2007) "Structural basis and mechanism of autoregulation in 3-phosphoinositide-dependent Grp1 family Arf GTPase exchange factors", Molecular cell, 28, 569-83

Autoinhibited structure

Activated structure

1 structures for Q9UIA0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UIA0-F1	Predicted				AlphaFoldDB

290 variants for Q9UIA0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA411432665 rs1601692804	2	D>A		No	ClinGen Ensembl
CA10217741 rs773314111	3	L>M		No	ClinGen ExAC gnomAD
CA10217742 rs760642213	4	C>R		No	ClinGen ExAC TOPMed gnomAD
rs201176804 CA10217743	6	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1412153331 CA411434054	7	E>D		No	ClinGen TOPMed gnomAD
rs1273188998 CA411434049	7	E>G		No	ClinGen TOPMed
rs751140524 CA324085804	8	P>A		No	ClinGen ExAC gnomAD
rs751140524 CA10217769	8	P>T		No	ClinGen ExAC gnomAD
CA10217773 rs373346288	9	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10217774 rs373346288	9	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs146584091 CA411434069	9	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146584091 CA10217772	9	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10217775 rs373346288	9	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10217777 rs778127039	10	E>D		No	ClinGen ExAC gnomAD
rs1422394641 CA411434073	10	E>K		No	ClinGen TOPMed
CA324085837 rs900610441	12	S>R		No	ClinGen TOPMed gnomAD
CA10217779 rs201471657	14	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10217781 rs368059608	16	T>M		No	ClinGen ExAC TOPMed gnomAD
rs542063693 CA10217783	20	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
CA10217784 rs762736131	23	K>E		No	ClinGen ExAC gnomAD
CA10217787 rs773973888	26	R>*		No	ClinGen ExAC TOPMed gnomAD
CA411434285 rs1166726783	26	R>Q		No	ClinGen gnomAD
rs772531746 CA10217811	38	D>N		No	ClinGen ExAC TOPMed gnomAD
CA324086974 rs541888953	43	V>M		No	ClinGen 1000Genomes
rs1453304830 CA411435017	44	F>I		No	ClinGen gnomAD
CA10217812 rs760218777	45	A>P		No	ClinGen ExAC gnomAD
rs765894407 CA10217813	47	I>T		No	ClinGen ExAC gnomAD
COSM1033962 rs1260995807 CA411435070	48	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs758863777 CA10217815	50	F>L		No	ClinGen ExAC gnomAD
CA411435109 rs1267923967 COSM1033966	51	E>K	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1185972551 CA411435125	53	A>T		No	ClinGen gnomAD
CA10217818 rs757351475	53	A>V		No	ClinGen ExAC gnomAD
CA10217820 rs745997961	54	E>V		No	ClinGen ExAC gnomAD
rs767424515 CA324087690	56	S>R		No	ClinGen Ensembl
rs771086852 CA10217849 COSM1535579	57	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10217848 rs770573958	57	R>W		No	ClinGen ExAC TOPMed gnomAD
rs369427195 CA411435173	58	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369427195 CA10217850	58	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs769340898 CA10217851	59	A>P		No	ClinGen ExAC gnomAD
rs769340898 CA411435176	59	A>S		No	ClinGen ExAC gnomAD
rs769340898 CA411435175	59	A>T		No	ClinGen ExAC gnomAD
rs1204495826 CA411435202	62	E>D		No	ClinGen gnomAD
rs1269916149 CA411435220	65	L>M		No	ClinGen gnomAD
rs1253254958 CA411435228	66	C>Y		No	ClinGen TOPMed
CA411435236 rs1189639916	67	I>T		No	ClinGen gnomAD
CA10217853 rs774903208	67	I>V		No	ClinGen ExAC gnomAD
CA10217854 rs762128641	69	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10217855 rs762128641	69	R>G		No	ClinGen ExAC TOPMed gnomAD
rs567728312 CA10217856	69	R>H		No	ClinGen ExAC TOPMed gnomAD
rs567728312 CA10217857	69	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1427319086 CA411435260	71	K>M		No	ClinGen TOPMed gnomAD
rs1427319086 CA411435259	71	K>R		No	ClinGen TOPMed gnomAD
CA10217860 rs774745272	74	M>I		No	ClinGen ExAC TOPMed gnomAD
rs753987112 CA10217859	74	M>T		No	ClinGen ExAC gnomAD
RCV000962873 CA10217858 VAR_051920 rs16998061	74	M>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA411435297 rs1340739630	76	P>H		No	ClinGen Ensembl
rs752640973 CA10217862	77	A>P		No	ClinGen ExAC TOPMed gnomAD
rs752640973 CA10217864	77	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752640973 CA10217863	77	A>T		No	ClinGen ExAC TOPMed gnomAD
CA324088299 rs990201794	79	G>A		No	ClinGen TOPMed
CA411436202 rs1411904405	79	G>C		No	ClinGen TOPMed
CA10217886 rs371158150	81	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs149336996 CA411436323	84	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs149336996 CA10217887	84	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA411436311 rs1569107879	84	I>V		No	ClinGen Ensembl
CA10217888 rs779559252	86	H>R		No	ClinGen ExAC gnomAD
CA411436366 rs1361387738	86	H>Y		No	ClinGen gnomAD
CA10217891 rs773697799	90	T>A		No	ClinGen ExAC gnomAD
rs776861342 CA10217894	91	P>L		No	ClinGen ExAC gnomAD
CA10217893 rs771242827	91	P>S		No	ClinGen ExAC TOPMed gnomAD
CA411436473 rs771242827	91	P>T		No	ClinGen ExAC TOPMed gnomAD
CA10217895 rs759744742	92	D>N		No	ClinGen ExAC gnomAD
rs374170840 CA10217897	93	V>I		No	ClinGen ExAC gnomAD
rs141741741 CA10217898	95	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10217900 rs147184717	98	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs767376300 CA10217902	101	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA411436710 rs1292668809	103	G>R		No	ClinGen TOPMed
CA411436731 rs1334020863	104	E>D		No	ClinGen gnomAD
rs372562479 CA10217903	104	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000909531 rs73887107 CA10217904	107	N>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1280265869 CA411436775	107	N>S		No	ClinGen TOPMed
CA10217905 rs779569731	109	T>A		No	ClinGen ExAC gnomAD
CA411436812 rs1444621888	110	A>P		No	ClinGen TOPMed
rs1306456559 CA411436825	111	I>V		No	ClinGen gnomAD
CA324088373 rs1006239567	114	Y>S		No	ClinGen TOPMed gnomAD
rs1217408916 CA411436856	115	L>M		No	ClinGen gnomAD
rs868185751 CA324088894	119	D>N		No	ClinGen Ensembl
CA10217933 rs749425039	120	P>H		No	ClinGen ExAC gnomAD
CA324088898 rs867900605	122	N>K		No	ClinGen Ensembl
CA411436977 rs1403440907	123	L>V		No	ClinGen gnomAD
CA10217935 rs774510035	124	Q>H		No	ClinGen ExAC gnomAD
CA10217934 rs768874582	124	Q>K		No	ClinGen ExAC gnomAD
rs142730044 CA10217936	125	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10217938 rs370825132	127	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1008747187 CA324088921	129	F>S		No	ClinGen TOPMed gnomAD
CA10217940 rs766037183	130	V>M		No	ClinGen ExAC TOPMed gnomAD
rs753540581 CA10217941	131	D>G		No	ClinGen ExAC gnomAD
CA411437129 rs1601703995	132	C>S		No	ClinGen Ensembl
COSM1714371 CA411437164 rs1466475196	134	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs752257583 CA10217944	136	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411437227 rs1445364221	137	N>S		No	ClinGen TOPMed gnomAD
CA411437225 rs1445364221	137	N>T		No	ClinGen TOPMed gnomAD
rs1429627200 CA411437237	138	L>F		No	ClinGen Ensembl
CA324088938 rs866085952	139	N>H		No	ClinGen Ensembl
rs1472606924 CA411437297	141	V>A		No	ClinGen gnomAD
rs768048937 CA10217946	141	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10217947 rs750852736	144	L>I		No	ClinGen ExAC gnomAD
CA10217988 rs760012727	146	Q>E		No	ClinGen ExAC gnomAD
CA324089587 rs1010387087	146	Q>L		No	ClinGen TOPMed
rs139032641 CA10217989	147	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1303518930 CA411438685	150	S>R		No	ClinGen gnomAD
CA324089596 rs970130619	152	R>Q		No	ClinGen TOPMed gnomAD
CA324089592 rs902233699	152	R>W		No	ClinGen TOPMed gnomAD
rs1228760288 CA411438754	154	P>L		No	ClinGen TOPMed gnomAD
CA10217994 rs757325443	156	E>K		No	ClinGen ExAC TOPMed gnomAD
rs781135219 CA10217995	157	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1279467262 CA411438848	159	K>N		No	ClinGen TOPMed
CA411438862 rs1234954788	160	I>R		No	ClinGen TOPMed
rs1601705216 CA411438879	161	D>A		No	ClinGen Ensembl
CA411438891 rs1256339899	162	R>Q		No	ClinGen gnomAD
rs1179811351 CA411438887	162	R>W		No	ClinGen gnomAD
CA411438911 rs1161863279	163	M>T		No	ClinGen gnomAD
rs1349339222 CA411438904	163	M>V		No	ClinGen TOPMed
rs145874855 CA10217997	166	A>P		No	ClinGen ESP ExAC gnomAD
rs145874855 CA10217998	166	A>T		No	ClinGen ESP ExAC gnomAD
CA10217999 rs370501719	166	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA324089619 rs575894028	169	T>I		No	ClinGen TOPMed gnomAD
CA411439020 rs768254975	170	R>*		No	ClinGen ExAC TOPMed gnomAD
CA10218000 rs768254975	170	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10218001 rs774033536	170	R>Q		No	ClinGen ExAC gnomAD
rs761270100 CA10218003	172	C>S		No	ClinGen ExAC gnomAD
rs761270100 CA10218002	172	C>Y		No	ClinGen ExAC gnomAD
rs1024833826 CA324089634	173	L>F		No	ClinGen TOPMed
rs373908152 CA411439159	178	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA10218005 rs373908152	178	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs934257633 CA324089641	179	F>L		No	ClinGen Ensembl
CA411439199 rs1326726735	180	Q>*		No	ClinGen gnomAD
CA411439204 rs1312744424	180	Q>R		No	ClinGen TOPMed
CA411439627 rs1248783105	183	D>G		No	ClinGen gnomAD
COSM3150301 CA10218023 rs756120570	187	V>M	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs982103198 CA324090506	188	L>F		No	ClinGen TOPMed
CA411439686 rs1400739383	192	I>V		No	ClinGen TOPMed
CA10218026 rs764469352	193	I>L		No	ClinGen ExAC gnomAD
CA10218028 rs762030009	193	I>M		No	ClinGen ExAC TOPMed gnomAD
CA10218027 rs774447340	193	I>N		No	ClinGen ExAC TOPMed gnomAD
rs774447340 CA411439693	193	I>T		No	ClinGen ExAC TOPMed gnomAD
CA411439696 rs767723450	194	M>L		No	ClinGen ExAC TOPMed gnomAD
rs767723450 CA10218029	194	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10218030 rs750560096	197	T>P		No	ClinGen ExAC gnomAD
CA411439754 rs1302582372	202	P>S		No	ClinGen gnomAD
rs1229945972 CA411439766	204	V>I		No	ClinGen gnomAD
rs753773355 CA10218033	205	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1308143 rs766349067 CA10218032	205	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs962420964 CA324090543	208	P>L		No	ClinGen TOPMed gnomAD
CA10218035 rs373433486	208	P>T		No	ClinGen ExAC gnomAD
CA411439797 rs1239141419	209	P>L		No	ClinGen TOPMed
rs1439979101 CA411439794	209	P>T		No	ClinGen TOPMed
rs777541367 CA10218038	211	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10218039 rs746552896	212	R>C		No	ClinGen ExAC gnomAD
rs770524744 CA10218040	212	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10218041 rs146595470	214	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165148934 CA411439833	215	S>P		No	ClinGen gnomAD
CA411439839 rs1415780776	216	M>V		No	ClinGen TOPMed gnomAD
CA411439847 rs1284040430	217	N>H		No	ClinGen TOPMed
CA10218042 rs377543427	217	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371162850 CA10218043	218	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs774848140 CA10218044	218	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767776599 CA10218046	219	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10218047 rs773391601	221	N>H		No	ClinGen ExAC gnomAD
rs1245078314 CA411439881	222	N>S		No	ClinGen gnomAD
rs760778626 CA10218048	223	G>V		No	ClinGen ExAC gnomAD
rs753735770 CA10218050	224	S>N		No	ClinGen ExAC TOPMed gnomAD
rs765068937 CA10218052	225	D>E		No	ClinGen ExAC TOPMed gnomAD
rs373821857 CA10218051	225	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10218054 rs201940219	228	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA411439922 rs1431732631	229	D>Y		No	ClinGen TOPMed
COSM1535578 rs200267703 CA10218059	232	R>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA10218058 rs200267703	232	R>Q		No	ClinGen ESP ExAC gnomAD
CA10218057 rs375468773	232	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA411442419 rs1355063450	233	N>D		No	ClinGen TOPMed
rs775777864 CA10218107	233	N>K		No	ClinGen ExAC gnomAD
CA324093017 rs905683648 COSM1033972	236	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1161908654 CA411442462	239	K>E		No	ClinGen gnomAD
CA10218109 rs768764540	241	E>K		No	ClinGen ExAC gnomAD
rs774401543 CA10218110	243	F>L		No	ClinGen ExAC gnomAD
CA411442530 rs1001643471	248	D>E		No	ClinGen TOPMed gnomAD
CA10218111 rs761700668	249	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1354513701 CA411442541	250	G>S		No	ClinGen TOPMed gnomAD
CA10218113 rs535579793	253	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1460541283 CA411442563	253	L>H		No	ClinGen TOPMed
rs766017763 CA10218115	254	T>A		No	ClinGen ExAC TOPMed gnomAD
CA10218118 rs764613251	255	H>Y		No	ClinGen ExAC gnomAD
rs757653238 CA10218120	256	T>N		No	ClinGen ExAC TOPMed gnomAD
CA10218121 rs542894219	257	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA324093064 rs55891452	261	D>N		No	ClinGen TOPMed
CA324093066 rs55891452	261	D>Y		No	ClinGen TOPMed
CA10218122 rs746238224	262	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA411442619 rs1406383122	262	R>W		No	ClinGen gnomAD
rs1458628541 CA411442628	263	E>D		No	ClinGen TOPMed
rs964007352 CA324093080	267	L>V		No	ClinGen TOPMed gnomAD
rs1017389661 CA324093749 COSM444959	272	R>C	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs779184298 CA10218164	272	R>H		No	ClinGen ExAC gnomAD
CA10218166 rs758461042	273	V>M		No	ClinGen ExAC
rs1219966516 CA411442713	275	T>M		No	ClinGen TOPMed
CA411442735 rs1399212404	278	R>Q		No	ClinGen TOPMed
rs976127260 CA324093763	279	R>C		No	ClinGen TOPMed
rs770713425 CA10218169	279	R>H		No	ClinGen ExAC gnomAD
rs758278339 CA10218171	282	I>L		No	ClinGen ExAC gnomAD
rs577150934 CA10218173	285	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10218175 rs768166234	286	N>S		No	ClinGen ExAC gnomAD
CA10218176 rs773606857	289	Y>D		No	ClinGen ExAC gnomAD
CA411430764 rs766992258	292	E>*		No	ClinGen ExAC gnomAD
COSM3390214 CA10218178 rs766992258	292	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs376748528 CA411430781	293	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376748528 CA10218179	293	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs757294013 CA10218204	300	R>Q		No	ClinGen ExAC gnomAD
CA10218203 rs751686825	300	R>W		No	ClinGen ExAC gnomAD
CA411430976 rs1323974605	303	I>T		No	ClinGen gnomAD
rs767472135 CA10218205	305	L>V		No	ClinGen ExAC gnomAD
rs1601712658 CA411431028	307	N>T		No	ClinGen Ensembl
rs1264676210 CA411431058	309	S>L		No	ClinGen TOPMed
rs1007935025 CA324076062	310	V>A		No	ClinGen Ensembl
CA10218207 rs755876561	311	Q>K		No	ClinGen ExAC gnomAD
CA411431103 rs1569113067	313	V>L		No	ClinGen Ensembl
rs1257149990 CA411431133	315	D>A		No	ClinGen gnomAD
rs1257149990 CA411431136	315	D>G		No	ClinGen gnomAD
rs1335400362 CA411431146	316	P>S		No	ClinGen gnomAD
rs749033596 CA10218209	317	K>R		No	ClinGen ExAC gnomAD
rs749033596 CA10218210	317	K>T		No	ClinGen ExAC gnomAD
rs1017645129 CA324076076	319	P>A		No	ClinGen gnomAD
rs1161385053 CA411431301	322	L>Q		No	ClinGen gnomAD
rs1419391613 CA411431348	326	N>H		No	ClinGen gnomAD
CA411431357 rs1601712983	326	N>T		No	ClinGen Ensembl
CA411431370 rs1313710062	328	S>G		No	ClinGen TOPMed gnomAD
rs943117418 CA324076519	329	C>F		No	ClinGen TOPMed gnomAD
rs138097924 CA324076526	330	R>*		No	ClinGen ESP TOPMed gnomAD
rs750368061 CA10218225	332	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs369747286 CA10218226	334	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA411431416 rs1601713006	335	K>E		No	ClinGen Ensembl
rs1180358639 CA411431450	339	T>I		No	ClinGen TOPMed gnomAD
rs778743869 CA10218230	340	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778743869 CA324076578	340	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs201433022 CA324076609	342	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10218232 rs372419773	342	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA411431464 rs372419773	342	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA324076627 rs776872303	343	G>D		No	ClinGen Ensembl
rs936482965 CA324076618	343	G>S		No	ClinGen TOPMed
rs746484799 CA10218234	344	R>G		No	ClinGen ExAC gnomAD
rs1601713064 CA411431484	345	V>G		No	ClinGen Ensembl
CA10218235 rs770381001	346	V>A		No	ClinGen ExAC gnomAD
CA411431489 rs770381001	346	V>G		No	ClinGen ExAC gnomAD
rs1039087659 CA324076657	347	E>K		No	ClinGen Ensembl
CA10218237 rs749693397	351	E>*		No	ClinGen ExAC TOPMed gnomAD
CA411431522 rs1174551795	351	E>G		No	ClinGen gnomAD
rs749693397 CA324076682	351	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768959042 CA411431528	352	S>*		No	ClinGen ExAC gnomAD
COSM1714373 rs768959042 CA10218238	352	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1601713090 CA411431535	353	Y>S		No	ClinGen Ensembl
rs761955954 CA10218240	354	R>C		No	ClinGen ExAC gnomAD
rs369905837 CA10218241	354	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA411431560 rs1299806598	357	A>D		No	ClinGen gnomAD
CA10218243 rs760651339	358	T>N		No	ClinGen ExAC gnomAD
CA411431577 rs1445436037	360	A>T		No	ClinGen gnomAD
CA10218244 rs766381730	360	A>V		No	ClinGen ExAC gnomAD
CA10218246 rs373316484	361	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10218247 rs758160222	363	R>H		No	ClinGen ExAC TOPMed gnomAD
CA411431613 rs1391252459	365	Q>L		No	ClinGen TOPMed gnomAD
CA324076719 rs1024876982	368	E>K		No	ClinGen TOPMed gnomAD
CA411431641 rs752531886	369	S>A		No	ClinGen ExAC TOPMed gnomAD
rs752531886 CA411431640	369	S>P		No	ClinGen ExAC TOPMed gnomAD
CA10218248 rs752531886	369	S>T		No	ClinGen ExAC TOPMed gnomAD
rs777543067 CA10218251	371	R>*		No	ClinGen ExAC gnomAD
rs751120236 CA10218252	371	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749945953 CA10218272	373	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1254605854 CA411431722	374	I>V		No	ClinGen TOPMed gnomAD
rs755539921 CA10218273	375	T>P		No	ClinGen ExAC TOPMed gnomAD
CA10218274 rs202179143	376	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA324077955 rs202179143	376	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748554960 CA10218275	376	R>H		No	ClinGen ExAC TOPMed gnomAD
rs747145121 CA10218278	381	D>E		No	ClinGen ExAC gnomAD
CA10218277 rs200382267	381	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1340281321 CA411431827	382	L>P		No	ClinGen gnomAD
rs1601714108 CA411431834	383	V>F		No	ClinGen Ensembl
CA411431839 rs1295613512	383	V>G		No	ClinGen gnomAD
CA411431854 rs1354388500	384	S>F		No	ClinGen gnomAD
rs892830901 CA10218281 COSM1682250	386	R>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA10218280 rs145973044	386	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA324078020 rs1009877557	388	K>E		No	ClinGen gnomAD
CA10218283 rs112449788	390	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769889970 CA10218284	392	S>N		No	ClinGen ExAC gnomAD

No associated diseases with Q9UIA0

5 regional properties for Q9UIA0

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	19 - 270	IPR000719
domain	Kinase associated domain 1 (KA1)	445 - 493	IPR001772
active_site	Serine/threonine-protein kinase, active site	138 - 150	IPR008271
domain	Ubiquitin-associated domain	291 - 331	IPR015940
binding_site	Protein kinase, ATP binding site	25 - 48	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
centriolar satellite	A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
intercellular bridge	A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
lipid binding	Binding to a lipid.

1 GO annotations of biological process

Name	Definition
regulation of ARF protein signal transduction	Any process that modulates the frequency, rate or extent of ARF protein signal transduction.

17 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KI41	CYTH2	Cytohesin-2	Bos taurus (Bovine)	SS
Q9Y6D6	ARFGEF1	Brefeldin A-inhibited guanine nucleotide-exchange protein 1	Homo sapiens (Human)	PR
Q9Y6D5	ARFGEF2	Brefeldin A-inhibited guanine nucleotide-exchange protein 2	Homo sapiens (Human)	PR
Q5JU85	IQSEC2	IQ motif and SEC7 domain-containing protein 2	Homo sapiens (Human)	EV
Q9UPP2	IQSEC3	IQ motif and SEC7 domain-containing protein 3	Homo sapiens (Human)	SS
Q6DN90	IQSEC1	IQ motif and SEC7 domain-containing protein 1	Homo sapiens (Human)	EV
Q99418	CYTH2	Cytohesin-2	Homo sapiens (Human)	SS
O43739	CYTH3	Cytohesin-3	Homo sapiens (Human)	EV
Q15438	CYTH1	Cytohesin-1	Homo sapiens (Human)	SS
Q92538	GBF1	Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1	Homo sapiens (Human)	PR
P63034	Cyth2	Cytohesin-2	Mus musculus (Mouse)	SS
Q9QX11	Cyth1	Cytohesin-1	Mus musculus (Mouse)	SS
O08967	Cyth3	Cytohesin-3	Mus musculus (Mouse)	EV
Q80YW0	Cyth4	Cytohesin-4	Mus musculus (Mouse)	SS
P97696	Cyth3	Cytohesin-3	Rattus norvegicus (Rat)	SS
P97694	Cyth1	Cytohesin-1	Rattus norvegicus (Rat)	SS
P63035	Cyth2	Cytohesin-2	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MDLCHPEPAE	LSSGETEELQ	RIKWHRKQLL	EDIQKLKDEI	ADVFAQIDCF	ESAEESRMAQ
70	80	90	100	110	120
KEKELCIGRK	KFNMDPAKGI	QYFIEHKLLT	PDVQDIARFL	YKGEGLNKTA	IGTYLGERDP
130	140	150	160	170	180
INLQVLQAFV	DCHEFANLNL	VQALRQFLWS	FRLPGEAQKI	DRMMEAFATR	YCLCNPGVFQ
190	200	210	220	230	240
STDTCYVLSF	SIIMLNTSLH	NPNVRDRPPF	ERFVSMNRGI	NNGSDLPEDQ	LRNLFDSIKS
250	260	270	280	290	300
EPFSIPEDDG	NDLTHTFFNP	DREGWLLKLG	GRVKTWKRRW	FILTDNCLYY	FEFTTDKEPR
310	320	330	340	350	360
GIIPLENLSV	QKVDDPKKPF	CLELYNPSCR	GQKIKACKTD	GDGRVVEGKH	ESYRISATSA
370	380	390
EERDQWIESI	RASITRVPFY	DLVSTRKKKI	ASKQ